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ribose-5-phosphate isomerase; phosphoriboisomerase (RPIA RPI)

Function: - carbohydrate degradation; pentose phosphate pathway; - D- ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1 D-ribose 5-phosphate = D-ribulose 5-phosphate Structure: - belongs to the ribose 5-phosphate isomerase family Pathology: - defects in RPIA are the cause of ribose-5-phosphate isomerase deficiency Laboratory: - ribose-5-phosphate isomerase in fibroblasts - ribose-5-phosphate isomerase in lymphoblasts

Related

ribose-5-phosphate isomerase deficiency

General

isomerase

Properties

SIZE: entity length = 311 aa MW = 33 kD MOTIF: active site

Database Correlations

OMIM correlations MORBIDMAP 180430 UniProt P49247 Pfam PF06026 Entrez Gene 22934 Kegg hsa:22934 ENZYME 5.3.1.6

References

  1. UniProt :accession P49247
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RPIA